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Article

HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childhood Diabetes Registry: Clinical Insights and Prevalence Informed by Genetic and Functional Evaluation.

International journal of molecular sciences - 3 Jun 2026

Pavithram Aishwarya, Johansson Bente B, Tjora Erling, Svalastoga Pernille, Mohamed Khadra A, Koløen Ingvild L, Toftdahl Maren, Skrivarhaug Torild, Vaudel Marc, Bjørkhaug Lise, Maloney Kristin A, Pollin Toni I, Johansson Stefan, Bellanné-Chantelot Christine, Sagen Jørn V, Molnes Janne, Njølstad Pål R

Abstract excerpt

Interpreting HNF1B variants is challenging in clinical practice. We aimed to integrate functional, clinical, and family data to improve variant classification, describe clinical features of carriers and report registry-level prevalence of HNF1B alterations. Clinical, genetic, and family data were analyzed from the Norwegian MODY Registry (NMR) and the Norwegian Childhood Diabetes Registry (NCDR). Clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42278591
DOI: 10.3390/ijms27115067
PMCID: PMC13257315

Genes

HNF1B

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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